A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657367



Internal ID9576786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12663098..12664481hg38UCSC Ensembl
chr10:12705097..12706480hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381384
hg191384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5831720, essv5700945, essv6393173, essv6325186, essv5801228
SamplesNA11930, NA18536, HG00634, NA18634, NA18999
Known GenesCAMK1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657367
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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